Thalassaemia

Thalassaemia is a genetic blood disorder in which the body makes an abnormal form of hemoglobin, the protein in red blood cells that carries oxygen. The disorder results in excessive destruction of red blood cells, which leads to anemia.

If only one of the parents is a carrier for Thalassaemia, one may develop a form of the disease called “Thalassaemia minor.” If this occurs, one will probably not have symptoms, but one will be a carrier of the disease. Some people with Thalassaemia minor do develop minor symptoms. If both the parents are carriers of Thalassaemia, they have a 25% chance of inheriting a more serious form of the disease i.e. Thalassaemia Major.

Thalassaemia Major

Thalassaemia Major is an autosomal, recessive, single gene blood disorder, which affects more than 100,000 children in India. Detection of Thalassaemia Major normally occurs when the children are between 3 and 6 months of age. The disorder is characterized by the inability to produce appropriate haemoglobin. As a result, delivery of oxygen cannot be effected to the different tissues and cells of the body. The children are dependent on lifelong blood transfusions.

Repeated blood transfusions result in an undesirable build up of iron, which can prove fatal. The children are required to take either injections or medicines daily to dispose off the excess iron (iron chelation). They are also required to be monitored periodically for other complications

Blood Transfusion, iron chelation, and managing of complications take care of the conventional treatment of children living with Thalassaemia Major. This of course is a lifelong treatment. The only permanent cure available today is a Stem Cell Transplant, for which an HLA matched donor is required.

Thalassaemia Minor

Most people think Thalassaemia is about a child who needs lifelong blood transfusions. While this is true, Thalassaemia more importantly is about two healthy youngsters who did not know that they were Thalassaemia Minor. A Thalassaemia Major child is born only if both parents are Thalassaemia Minor. The parents do not know that they are Thalassaemia Minor because most Thalassaemia Minors are normal, healthy people. They will continue to be healthy.

There are an estimated 40 million Indians who are Thalassaemia Minor. Almost all of them are completely unawares of this. There are only two ways of finding out if you are a Thalassaemia Minor :

by doing a blood test for Thalassaemia Minor

after giving birth to a Thalassaemia Major child

Unfortunately most people come to know that they are Thalassaemia Minor only after the birth of their Thalassaemia Major child. By then the harm is done and they can only repent. Had they known that they were both Thalassaemia Minor, they could have prevented this birth.

It is important for every youngster to do a test for “Thalassaemia Minor” before getting married.